Research Review

Poland syndrome with bilateral features: Case description with review of the literature†

  1. Anwar Baban1,2,
  2. Michele Torre3,
  3. Sebastiano Bianca4,
  4. Anna Buluggiu3,
  5. Mario Igor Rossello5,
  6. Maria Grazia Calevo6,
  7. Maura Valle7,
  8. Roberto Ravazzolo1,8,
  9. Vincenzo Jasonni3,
  10. Margherita Lerone1,*

Article first published online: 16 JUN 2009

DOI: 10.1002/ajmg.a.32922

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 149A, Issue 7, pages 1597–1602, July 2009

Additional Information

How to Cite

Baban, A., Torre, M., Bianca, S., Buluggiu, A., Rossello, M. I., Calevo, M. G., Valle, M., Ravazzolo, R., Jasonni, V. and Lerone, M. (2009), Poland syndrome with bilateral features: Case description with review of the literature. American Journal of Medical Genetics Part A, 149A: 1597–1602. doi: 10.1002/ajmg.a.32922

Author Information

  1. 1

    Laboratory of Molecular Genetics, Gaslini Children Hospital, Genova, Italy

  2. 2

    Cardiovascular Department, Gaslini Children Hospital, Genova, Italy

  3. 3

    Pediatric Surgery Department, Gaslini Children Hospital, Genova, Italy

  4. 4

    Reproductive Genetic Counselling and Teratology Center, Maternal and Infant Department, ARNAS Garibaldi Nesima, Catania, Italy

  5. 5

    Department of Hand Surgery, San Paolo Hospital, Savona, Italy

  6. 6

    Epidemiology and Biostatistics Service, Scientific Direction, Gaslini Children Hospital, Genova, Italy

  7. 7

    Radiology Department, Gaslini Children Hospital, Genova, Italy

  8. 8

    Department of Pediatrics and Center of Excellence for Biomedical Research (CEBR), University of Genova, Genova, Italy

*U.O. Genetica Molecolare, Istituto G. Gaslini, Largo G. Gaslini 5, 16148 Genova, Italia.

  1. †

    How to cite this article: Baban A, Torre M, Bianca S, Buluggiu A, Rossello MI, Calevo MG, Valle M, Ravazzolo R, Jasonni V, Lerone M. 2009. Poland syndrome with bilateral features: Case description with review of the literature. Am J Med Genet Part A 149A:1597–1602.

Publication History

  1. Issue published online: 18 JUN 2009
  2. Article first published online: 16 JUN 2009
  3. Manuscript Accepted: 9 APR 2009
  4. Manuscript Received: 26 AUG 2008

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Keywords:

  • Poland syndrome (PS);
  • bilaterality;
  • asymmetry;
  • isolated pectoral muscle defects

Abstract

Poland syndrome (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper limb anomalies. Bilateral hypoplasia/aplasia of the pectoralis muscle and upper limb defects in association with variable thoracic muscles, chest wall deformities and lower limb defects have been infrequently reported in the literature. We report on a 3½-year-old girl with clinical features consisting in bilateral asymmetric pectoral muscle defects (complete agenesis on the left side and agenesis of the sternocostal head on the right side), nipple hypoplasia, left rib defect, and right hand symbrachydactyly. In this study, we reviewed the bilateral features present in our patient and those described in the literature. Hypotheses explaining bilateral features in PS are reviewed. © 2009 Wiley-Liss, Inc.

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